Rebecca S. Beroukhim

Characterization of cardiac tumors in children by cardiovascular magnetic resonance imaging: a multicenter experience.

OBJECTIVES The aim of this study was to report the results of an international multicenter experience of cardiac magnetic resonance imaging (MRI) evaluation of cardiac tumors in children, each with histology correlation or a diagnosis of tuberous sclerosis, and to determine which characteristics are predictive of tumor type. BACKGROUND Individual centers have relatively little experience with diagnostic imaging of cardiac tumors in children, because of their low prevalence. The accuracy of cardiac MRI diagnosis on the basis of a pre-defined set of criteria has not been tested. METHODS An international group of pediatric cardiac imaging centers was solicited for case contribution. Inclusion criteria comprised: 1) age at diagnosis ≤18 years; 2) cardiac MRI evaluation of cardiac tumor; and 3) histologic diagnosis or diagnosis of tuberous sclerosis. Data from the cardiac MRI images were analyzed for mass characteristics. On the basis of pre-defined cardiac MRI criteria derived from published data, 3 blinded investigators determined tumor type, and their consensus diagnoses were compared with histologic diagnoses. RESULTS Cases (n = 78) submitted from 15 centers in 4 countries had the following diagnoses: fibroma (n = 30), rhabdomyoma (n = 14), malignant tumor (n = 12), hemangioma (n = 9), thrombus (n = 4), myxoma (n = 3), teratoma (n = 2), and paraganglioma, pericardial cyst, Purkinje cell tumor, and papillary fibroelastoma (n = 1, each). Reviewers who were blinded to the histologic diagnoses correctly diagnosed 97% of the cases but included a differential diagnosis in 42%. Better image quality grade and more complete examination were associated with higher diagnostic accuracy. CONCLUSIONS Cardiac MRI can predict the likely tumor type in the majority of children with a cardiac mass. A comprehensive imaging protocol is essential for accurate diagnosis. However, histologic diagnosis remains the gold standard, and in some cases malignancy cannot be definitively excluded on the basis of cardiac MRI images alone.

Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.

Outcomes After Anatomic Repair for D-Transposition of the Great Arteries With Left Ventricular Outflow Tract Obstruction

Background— D-transposition of the great arteries (TGA) with left ventricular outflow tract obstruction (LVOTO) may be treated with arterial switch operation (ASO) with or without LVOT intervention, as well as non-ASO anatomic repairs, such as aortic translocation or Rastelli procedure. We evaluated midterm results of repair for TGA/LVOTO at our institution. Methods and Results— Eighty-eight patients with TGA/LVOTO who underwent anatomic repair were retrospectively reviewed. LVOTO was defined as pulmonary valve (PV) z-score ≤−2.0 or LVOT gradient ≥20 mm Hg in the presence of anatomic subvalvar stenosis. Risk factors for LVOT reintervention were determined by logistic regression. There was no hospital mortality and 1 late mortality. Patients undergoing Rastelli procedure were more likely to require surgical reintervention for LVOTO compared to the other groups (P=0.015). Patients undergoing ASO alone had a higher rate of late LVOT reintervention compared to those who had concomitant ASO/LVOT intervention (P=NS). In those undergoing Rastelli, a larger PV z-score was a predictor of LVOT reintervention (P=0.012). PV z-scores significantly decreased before repair in patients undergoing delayed repair (P=0.005); however, they increased significantly after neonatal ASO (P<0.001). Conclusions— Patients with TGA/LVOTO who undergo Rastelli repair have a high rate of LVOT reintervention. Higher preoperative PV z-score is a risk factor for reintervention in this group. Patients with mild/moderate LVOTO undergoing ASO alone without LVOT intervention may have an increased risk of LVOT reintervention. In neonates who are candidates for ASO, delay of repair is associated with diminution in size of PV, which may subsequently reduce their suitability for ASO.

An Echocardiographic Model Predicting Severity of Aortic Regurgitation in Congenital Heart Disease

Background—Multiple echocardiographic parameters have been identified to predict the severity of aortic regurgitation (AR) with variable reliability. This study was performed to identify which echocardiographic parameters best predict the severity of AR in a cohort of patients with congenital heart disease, using cardiovascular MRI quantification as a reference standard. Methods and Results—The study involved 2 phases. In phase 1, predictive models were developed on the basis of multivariable analysis of various morphometric and Doppler variables obtained from 174 echocardiograms that best predicted the severity of AR as defined by paired cardiovascular MRI examinations. A nonlinear estimate of regurgitation fraction, using the variables parasternal vena contracta-derived area divided by body surface area and abdominal aorta Doppler retrograde velocity-time integral divided by antegrade velocity-time integral, was identified through multivariable analysis as the best predictive model for AR fraction. In phase 2, the predictive models were prospectively tested on 43 echocardiographic examinations for which a paired cardiovascular MRI was performed. The agreement between the observed and predicted AR fraction was assessed using Bland-Altman analysis. For the 30 studies of the validation data set that had adequate quality images of both the parasternal vena contracta width and the abdominal aorta flow profile, the predicted AR values had a mean bias±SD of 0.4±7.3% (P=0.80). Conclusions—A model using the 2 variables parasternal vena contracta-derived area divided by body surface area and abdominal aorta Doppler retrograde velocity-time integral divided by antegrade velocity-time integral can predict AR severity in patients with a wide variety of congenital heart disease.

Feasibility of dobutamine stress cardiovascular magnetic resonance imaging in children

To evaluate the feasibility of dobutamine stress magnetic resonance (DSMR) in pediatric patients.

Perinatal outcome after prenatal diagnosis of single-ventricle cardiac defects.

To investigate the perinatal outcome of cases with a prenatal diagnosis of single‐ventricle cardiac defects, single ventricle being defined as a dominant right ventricle (RV) or left ventricle (LV), in which biventricular circulation was not possible.

Ebstein Anomaly: Assessment, Management, and Timing of Intervention

Opinion statementEbstein anomaly is a developmental abnormality of the tricuspid valve and right ventricle that results in tricuspid regurgitation and right heart enlargement. Because of the variation in clinical severity and associated findings, patients require a detailed, well-tailored evaluation. For these reasons, management of adults with Ebstein anomaly should take place in a center with expertise in adult congenital heart disease. In many patients, the decision regarding if and when to perform surgery remains controversial, largely because of a lack of published data demonstrating improved postoperative symptoms and survival compared to the natural history of the disease. Because standard two-dimensional echocardiography and cardiovascular magnetic resonance imaging planes do not provide the necessary data to preoperatively manage patients, comprehensive echocardiography and cardiovascular magnetic resonance imaging protocols by experts trained in congenital heart disease are essential in the preoperative management of patients with Ebstein anomaly. As patients may be unaware of their exercise limitations, and for prognostic value, serial cardiopulmonary exercise stress testing is very useful in the evaluation of Ebstein anomaly patients. Surgical tricuspid valve repair historically has not been highly successful because of the marked distortion of tricuspid valve leaflets and right ventricular pathology. Over the last several years, reports of newer surgical techniques to repair the valve, with concurrent advances in arrhythmia management of patients hold promise for improved long term outcomes of patients with Ebstein anomaly. However, because Ebstein anomaly is rare and tricuspid valve repair remains technically challenging, the newer valve repair techniques have not yet gained widespread acceptance throughout the adult congenital heart disease community.

Cardiac Paraganglioma in an Adolescent

A 16-year-old adolescent boy was admitted to a local hospital for surgical repair of an orbital fracture. He was seen by a pediatric cardiologist at 12 years of age for evaluation of palpitations and syncope, which was diagnosed as a vasovagal episode. He has had no subsequent symptoms or other health concerns and has excelled in sports. During recovery from the orbital fracture surgery, he was noted to have irregular heart rhythm and was subsequently referred for outpatient pediatric cardiology evaluation. His vital signs and physical examination were normal. Echocardiogram revealed a 2.5×2.6-cm mass between the anterior aspects of the proximal ascending aorta and main pulmonary artery with no obstruction to blood flow and no additional structural or functional abnormalities (Movie I in the online-only Data Supplement). Chest computed tomography identified small blood vessels from the proximal left and right coronary arteries entering the tumor. Cardiac magnetic resonance sequences were consistent with a high vascular supply to the tumor: hyperintense signal on …

Echocardiographic Features of Double-Outlet Right Atrium and Straddling Tricuspid Valve with Intact Ventricular Septum: A Rare Cardiac Anomaly Associated with Pulmonary Atresia and Single Coronary Artery Ostium

Double-outlet right atrium is a rare congenital cardiac anomaly previously described in association with atrioventricular canal defect. Straddling tricuspid valve is another uncommon anomaly that is almost always associated with a ventricular septal defect. We report the echocardiographic features of a newborn with double-outlet right atrium associated with pulmonary atresia, intact ventricular septum, and right coronary artery ostial atresia. Alternatively, the anatomy can be interpreted as straddling tricuspid valve with intact ventricular septum. The echocardiographic findings were confirmed by cardiac catheterization.

Surgical correction of mitral valve prolapse : a cure for recurrent ventricular tachycardia in Marfan syndrome?

We describe the case of a 3-year-old child with neonatal Marfan syndrome complicated by mitral valve prolapse with regurgitation, marked aortic root dilatation, and ventricular tachycardia. The patient had resolution of ventricular tachycardia following surgical intervention consisting of a valve-sparing aortic root replacement and mitral valve annuloplasty.